Associated Papers
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Jafari Khamirani H et al.
Frontiers in Genetics, 2022
36276950 (PubMed )
Supplement: Table1.XLSX › Variant_annotation
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
James KN et al.
Npj Genomic Medicine, 2020
32821428 (PubMed )
Supplement: 41525_2020_140_MOESM1_ESM.pdf
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